Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing study.

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Tác giả: Rosalyn Adam, Jaimee Becket, Catherine A Brownstein, Elicia Estrella, Ali G Gharavi, Natasha Harris, Atlas Kahn, Krzysztof Kiryluk, Louis Kunkel, Richard Lee, Ayan Malakar, Joshua E Motelow, Sarath Babu Krishna Murthy, Miguel Verbitsky, Madelyn Wiesenhahn

Ngôn ngữ: eng

Ký hiệu phân loại: 617.08 Psychosomatic medicine

Thông tin xuất bản: United States : medRxiv : the preprint server for health sciences , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 722715

Interstitial cystitis/bladder pain syndrome (IC/BPS) is a poorly understood and underdiagnosed syndrome of chronic bladder/pelvic pain with urinary frequency and urgency. Though IC/BPS can be hereditary, little is known of its genetic etiology. Using the eMERGE data, we confirmed known phenotypic associations such as gastroesophageal reflux disease and irritable bowel syndrome and detected new associations, including osteoarthrosis/osteoarthritis and Barrett's esophagus. An exome wide ultra-rare variants analysis in 348 IC/BPS and 11,981 controls extended the previously reported association with
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